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Article

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.

Journal of cellular and molecular medicine - 1 Jul 2022

Huang Kun, Duan Hui-Qian, Li Qiu-Xiang, Luo Yue-Bei, Bi Fang-Fang, Yang Huan

Abstract excerpt

Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were...

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Atrophy
Biopsy
Mutation
Myasthenic Syndromes, Congenital
NAV1.4 Voltage-Gated Sodium Channel

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Synaptic Transmission

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PMID: 35670010
DOI: 10.1111/jcmm.17417
PMCID: PMC9279597

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